The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs

Adams‐Oliver syndrome revisited

“…Dilated scalp veins were reported in one child as the only apparent scalp abnormality in a mother-son pair presumed to share the Adams-Oliver gene [Toriello et al, 19881. In one patient, a venous flow study demonstrated a superficial venous plexus with normal superficial drainage to the jugular complex [McMurray et al, 19771. Other anomalies have been observed rarely in association with Adams-Oliver syndrome, including simple pinnae [Burton et al, 19761, congenital heart defect [Farmer and Maxmen, 19601, skin tags on toes [Fryns et al, 19771, hemangioma [Farmer and Maxmen, 19603, undescended testes [McMurray et al, 1977;Scribanu and Temtamy, 19751, supernumerary nipples [Wilson and Harcus, 19821, hypoplastic optic nerve [Wilson and Harcus, 19821, aplasia cutis congenita at the knee [Scribanu and Temtamy, 19751, and "woolly hair" [Scribanu and Temtamy, 19751. Chromosomes have been normal in every case examined [Bonafede and Beighton, 1979;Irons and Olson, 1980;Jaeggi et al, 1990;McMurray et al, 1977;Scribanu and Temtamy, 1975;Sybert, 1985;Wilson and Harcus, 1982; Patient 1, current report]. Jones et al…”

“…Inheritance From our review, the syndrome as autosomal dominant inheritance with clear vertical transmission in 8 pedigrees (Table 11) and includes many examples of male-to-male transmission [Adams and Oliver, 1945;Burton et al, 1976;Kahn and Olmedo, 1950;Scribanu and Temtamy, 19751. A family with "probable AdamsOliver syndrome" also shows vertical transmission from a mother to son [Toriello et al, 19881. In some families, multiple affected offspring have been born to a parent in whom expression was so minimal as to be recognized only retrospectively on the basis of obligate carrier status andlor physical findings within the range of normal variation, e.g., short toes, symphalangism [Burton et al, 1976;Hidalgo et al, 1983;Scribanu and Temtamy, 19751. Sporadic cases likely represent new mutations [Farmer and Maxmen, 19601, but, in several cases, the gene was not penetrant LKahn and Olmedo, 1950;Scribanu and Temtamy, 1975;Shapiro and Escobedo, 19851. Thus, in sporadic cases, it is difficult or impossible to distinguish those with a new mutation from those who are inapparent carriers of the gene. This also leaves open the question of possible epistasis and the need of environmental factors (e.g., placental insufficiency) for expression.…”

Adams oliver syndrome: A family with extreme variability in clinical expression

“…Limb defects have varied from absence of a hand or foot [Adams and Oliver, 19451, through absence of digits, deficiency of terminal phalanges to syndactyly and brachydactyly [Kuster et al, 1988;Fryns et al, 1977;Scribanu and Temtamy, 1975;McMurray et al, 1977;Bjornsdottir et al, 1988;Sybert, 19881. Other anomalies include cutis marmorata (Bjornsdottir et al, 1988;Toriello et al, 19881, congenital heart disease [often conotruncal cardiac defects: reviewed by David et al, 19911, and short stature, which may be prenatal in onset as judged by our cases 2 and 3 and previously reported birth weights [Adams and Oliver, 1945;Scribanu and Temtamy 1975;Kuster et al, 1988;David et al, 19911. Our patients had several hitherto undescribed mani-festations. Two individuals had microcephaly, mild mental retardation, and epilepsy (patients 1 and 2).…”

Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams‐Oliver syndrome?

“…Closer examination of previously reported cases provides additional evidence that causal heterogeneity may exist. Although many of the reports are of sporadic cases, some are of familial cases consistent with an autosomal dominant mode of inheritance [Bonafede and Beighton, 1979;Burton et al, 1976;McMurray et al, 1977;Rosenbaum, 1951;Scribanu and Temtamy, 1975;Shapiro and Escobedo, 1985;Sybert, 19851; yet others are consistent with autosomal recessive inheritance [Kahn and Olmedo, 1950;Koiffmann et al, 1988;Sybert, 19851. Even within the autosomal dominant group, there is evidence that there may be heterogeneity, based on greater interfamilial variability than intrafamilial variability.…”